Linked Data
dbSNP Id:
rs777541810
ExAC:
11:67353965 C / T
gnomAD v2:
11-67353965-C-T
gnomAD v4:
11-67586494-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67586494C>T , CM000673.2:g.67586494C>T | GRCh38 |
| NC_000011.9:g.67353965C>T , CM000673.1:g.67353965C>T | GRCh37 |
| NC_000011.8:g.67110541C>T | NCBI36 |
| NG_012075.1:g.7900C>T , LRG_723:g.7900C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.442C>T | ENSP00000381604.1:p.Leu148Phe | |
| ENST00000398606.10:c.550C>T MANE Select | ENSP00000381607.3:p.Leu184Phe | |
| ENST00000646888.1:c.*266C>T | ENSP00000494477.1:n.*266C>T | |
| ENST00000398603.5:c.442C>T | ENSP00000381604.1:p.Leu148Phe | |
| ENST00000398606.7:c.550C>T | ENSP00000381607.3:p.Leu184Phe | |
| ENST00000467591.1:n.661C>T | ||
| ENST00000494593.1:n.1522C>T | ||
| ENST00000498765.5:c.613C>T | ||
| NM_000852.3:c.550C>T , LRG_723t1:c.550C>T | NP_000843.1:p.Leu184Phe | |
| NM_000852.4:c.550C>T MANE Select | NP_000843.1:p.Leu184Phe |